Canonical Allele Identifier: CA1108705563

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801069007
• gnomAD v3: 7-150949927-T-TTGTGGCGGATCCTGAAGGGAAGGAGAA
• gnomAD v4: 7-150949927-T-TTGTGGCGGATCCTGAAGGGAAGGAGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949933_150949959dup , CM000669.2:g.150949933_150949959dup	GRCh38
NC_000007.13:g.150647021_150647047dup , CM000669.1:g.150647021_150647047dup	GRCh37
NC_000007.12:g.150277954_150277980dup	NCBI36
NG_008916.1:g.32973_32999dup , LRG_288:g.32973_32999dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1910_1936dup
ENST00000684241.1:n.3231+214_3231+240dup
ENST00000262186.10:c.2398+214_2398+240dup MANE Select	ENSP00000262186.5:n.2398+214_2398+240dup
ENST00000330883.9:c.1378+214_1378+240dup	ENSP00000328531.4:n.1378+214_1378+240dup
ENST00000262186.9:c.2398+214_2398+240dup	ENSP00000262186.5:n.2398+214_2398+240dup
ENST00000330883.8:c.1378+214_1378+240dup	ENSP00000328531.4:n.1378+214_1378+240dup
ENST00000430723.4:c.2264_2290dup	ENSP00000387657.4:p.His763_Lys764insIleLeuLeuProPheArgIleArgH...
ENST00000461280.1:n.1899_1925dup
ENST00000473610.5:n.2244_2270dup
ENST00000532957.5:n.2835_2861dup
NM_000238.3:c.2398+214_2398+240dup , LRG_288t1:c.2398+214_2398+240dup	NP_000229.1:n.2398+214_2398+240dup
NM_001204798.1:c.1592_1618dup	NP_001191727.1:p.His539_Lys540insIleLeuLeuProPheArgIleArgHis
NM_172056.2:c.2612_2638dup , LRG_288t2:c.2612_2638dup	NP_742053.1:p.His879_Lys880insIleLeuLeuProPheArgIleArgHis
NM_172057.2:c.1378+214_1378+240dup , LRG_288t3:c.1378+214_1378+240dup	NP_742054.1:n.1378+214_1378+240dup
XM_011516185.1:c.2098+214_2098+240dup	XP_011514487.1:n.2098+214_2098+240dup
XM_011516186.1:c.2398+214_2398+240dup	XP_011514488.1:n.2398+214_2398+240dup
XM_011516185.2:c.2098+214_2098+240dup	XP_011514487.1:n.2098+214_2098+240dup
XM_011516186.3:c.2398+214_2398+240dup	XP_011514488.1:n.2398+214_2398+240dup
XM_017012195.1:c.2248+214_2248+240dup	XP_016867684.1:n.2248+214_2248+240dup
XM_017012196.1:c.2221+214_2221+240dup	XP_016867685.1:n.2221+214_2221+240dup
NM_000238.4:c.2398+214_2398+240dup MANE Select	NP_000229.1:n.2398+214_2398+240dup
NM_001204798.2:c.1592_1618dup	NP_001191727.1:p.His539_Lys540insIleLeuLeuProPheArgIleArgHis
NM_172057.3:c.1378+214_1378+240dup	NP_742054.1:n.1378+214_1378+240dup